Hs01576261_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19037104 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 9993
• Gene Name: DiGeorge syndrome critical region gene 2
• Gene Aliases: DGS-C, IDD, LAN, SEZ-12
• Location: Chr.22:19036282-19122454 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DGCR2	NM_001173533.1	9	3539	NP_001167004.1
	NM_001173534.1	9	3530	NP_001167005.1
	NM_001184781.1	10	3653	NP_001171710.1
	NM_005137.2	10	3662	NP_005128.1
	NR_033674.1	9	3547
	BC040500.1	10	3657	AAH40500.1
	CR936871.1	11	3997	CAI59783.1
	D79985.1	10	3599	BAA11480.1
	L77560.1	10	3563
	X83545.1	10	3563	CAA58536.1
	X84076.1	10	3560	CAA58883.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv588213	Chr.22:18971102 - 19298293 on Build GRCh38	Gain	CLTCL1 DGCR10 DGCR11 DGCR14 LINC01311 DGCR5 DGCR9 TSSK2 GSC2 DGCR2 SLC25A1
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	RIMBP3 DGCR11 FAM230A LOC100996401 DGCR6 LOC102725072 LOC100996415 GGT3P TMEM191B DGCR2 USP18 DGCR10 PI4KAP1 LOC642643 LOC729461 DGCR5 DGCR9 PRODH LOC100996432
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR10 DGCR11 DGCR6 DGCR5 DGCR9 PRODH DGCR2 LOC100996432
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	RIMBP3 FAM230A LOC100996401 DGCR6 LOC102725072 LOC100996415 GGT3P TMEM191B DGCR2 USP18 DGCR10 PI4KAP1 LOC642643 LOC729461 DGCR5 DGCR9 PRODH LOC100996432
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR6 DGCR5 DGCR9 PRODH DGCR2 LOC100996432
dgv4469n100	Chr.22:18760915 - 19037281 on Build GRCh38	Gain	DGCR10 DGCR6 LOC102725072 DGCR5 GGT3P DGCR9 PRODH DGCR2 LOC100996432
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR10 DGCR11 DGCR6 DGCR5 DGCR9 PRODH DGCR2
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR2
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR10 DGCR11 DGCR6 LOC102725072 DGCR5 DGCR9 PRODH DGCR2 LOC100996432
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR6 DGCR5 DGCR9 PRODH DGCR2 LOC100996432
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	RIMBP3 FAM230A LOC100996401 DGCR6 LOC102725072 LOC100996415 GGT3P TMEM191B DGCR2 USP18 DGCR10 PI4KAP1 LOC642643 LOC729461 DGCR5 DGCR9 PRODH LOC100996432
dgv1284e212	Chr.22:18929315 - 19037146 on Build GRCh38	Gain	DGCR10 DGCR5 DGCR9 PRODH DGCR2
dgv1285e212	Chr.22:18929330 - 19037146 on Build GRCh38	Loss	DGCR10 DGCR5 DGCR9 PRODH DGCR2
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	RIMBP3 PEX26 DGCR11 FAM230A LOC100996401 DGCR6 LOC102725072 LOC100996415 GGT3P TUBA8 TMEM191B DGCR2 USP18 DGCR10 PI4KAP1 LOC642643 LOC729461 DGCR5 DGCR9 PRODH LOC100996432
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CLTCL1 RIMBP3 DGCR11 DGCR14 LOC100996401 DGCR6 LOC100996415 TXNRD2 SEPT5-GP1BB TSSK2 USP18 SEPT5 LINC01311 PI4KAP1 C22orf29 LOC642643 TBX1 MRPL40 LOC729461 LINC00895 C22orf39 HIRA CLDN5 LOC100996432 SLC25A1 CDC45 MIR4761 FAM230A GP1BB LOC102725072 GGT3P TMEM191B DGCR2 UFD1L DGCR10 COMT DGCR5 DGCR9 GNB1L PRODH GSC2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

cell adhesion
organ morphogenesis
cognition

Function(s)

carbohydrate binding